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Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolism.

Neuronal intermediate filaments consist of the NFL subunit linked with NFM and NFH, and their alterations have been proposed as a pathogenesic cause in motor neuron diseases. Depletion of the Nefl gene in mice mimicks the reduced NFL mRNA levels seen in amyotrophic lateral sclerosis and causes perikaryal accumulation of neurofilament proteins and axonal hypotrophy in motoneurons. NFL -/- mice were evaluated for regional brain metabolism by means of quantitative histochemical estimation of cytochrome oxidase (COx) activity. The NFL null mice displayed enzymatic activity alterations in numerous hindbrain regions, mainly the cerebellum, connected regions of the brainstem (red nucleus, vestibular nuclei, and reticular formation), and cranial nerve nuclei. All of the affected regions presented elevated COx activity, except for the Purkinje cells of the cerebellum and the magnocellular red nucleus, where enzymatic activity was lower. NFL-disrupted mice displayed functional alterations in brainstem sensorimotor regions affected in amyotrophic lateral sclerosis.[1]

References

  1. Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolism. Dubois, M., Lalonde, R., Julien, J.P., Strazielle, C. J. Neurosci. Res. (2005) [Pubmed]
 
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